ClinVar Miner

Submissions for variant NM_000209.4(PDX1):c.226G>A (p.Asp76Asn) (rs137852783)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000246150 SCV000518497 likely benign not specified 2018-02-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000009409 SCV000746931 uncertain significance Diabetes mellitus type 2 2017-12-18 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000626294 SCV000746953 likely pathogenic Maturity onset diabetes mellitus in young 2017-12-18 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000030077 SCV000052732 not provided Maturity-onset diabetes of the young, type 4 2011-08-18 no assertion provided clinical testing
OMIM RCV000009409 SCV000029627 risk factor Diabetes mellitus type 2 1999-11-01 no assertion criteria provided literature only
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000445407 SCV000537091 likely benign Monogenic diabetes 2016-08-16 criteria provided, single submitter research ACMG Criteria:BP4, PP3, BS2 (cases=controls in PMID 17592437, PMID 21569008). Notes: OMIM suggests that it is a susceptability factor
PreventionGenetics RCV000246150 SCV000302992 benign not specified criteria provided, single submitter clinical testing

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